转化生长因子-β1基因单核苷酸多态性与乙型肝炎后肝硬化的相关性研究  

Single Nucleotide Polymorphisms of Transforming Growth Factor-β1 Gene in Patient with Liver Cirrhosis Resulting from Chronic Hepatitis B

作　　者：罗斌[1] 王俊利[1] 黄重敏[2] 覃后继[2] 

机构地区：[1]右江民族医学院附属医院检验科,广西百色533000 [2]右江民族医学院附属医院传染科,广西百色533000

出　　处：《中华医院感染学杂志》2010年第10期1389-1392,共4页Chinese Journal of Nosocomiology

基　　金：广西卫生厅基金资助课题(Z2006291)

摘　　要：目的探讨转化生长因子-β1(TGF-β1)基因单核苷酸多态性(SNPs)及其单倍型与乙型肝炎后肝硬化易感性之间的关系。方法以115例乙型肝炎后肝硬化患者和150例健康对照者为研究对象,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和DNA测序的方法对TGF-β1基因-509C/T、869T/C(Leu10Pro)单核苷酸多态性进行基因分型,用SHEsis软件分析TGF-β1基因的连锁不平衡及单倍型频率。结果 TGF-β1基因869T/C(Leu10Pro)多态性在乙型肝炎后肝硬化组和正常人群中的分布差异无统计学意义,而TGF-β1基因-509C/T多态性在两组人群中的分布差异有统计学意义(P<0.05),等位基因频率的相对风险分析发现,T等位基因携带者患乙型肝炎后肝硬化的风险是C等位基因的1.603倍(OR=1.603,95%CI:1.116～2.064);联合基因型分析发现,TGF-β1基因-509C/T、869T/C单核苷酸多态性存在着强烈的连锁不平衡(|D′|=0.891),与-509C/869T单倍型携带者比较,-509T/869C单倍型携带者显著增加了乙型肝炎后肝硬化的发病风险(OR=1.643,95%CI:1.183～2.310)。结论 TGF-β1基因-509C/T多态性和-509T/869C单倍型与乙型肝炎后肝硬化的发病具有相关性,其中T等位基因可能是乙型肝炎后肝硬化的遗传易感基因。OBJECTIVE To investigate the single nucleotide polymorphisms（SNPs）and their haplotypes of transforming growth factor-β1（TGF-β1）gene associated with susceptibility to cirrhosis of liver resulting from chronic hepatitis B in a Chinese population.METHODS We analyzed two SNPs of TGF-β1 gene promoter-509 C/T and 869 T/C（Leu10Pro）at exon one in 115 patients with liver cirrhosis resulting from chronic hepatitis B and 150 age and sex matched controls in a Chinese population,using a polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）strategy and DNA sequencing.Frequency of haplotypes and linkage disequilibrium of TGF-β1 gene in different groups were analyzed by SHEsis programs.RESULTS The distributions of TGF-β1 gene 869T/C polymorphism was not different between liver cirrhosis resulting from chronic hepatitis B and control group,but the TGF-β1 gene-509C/T polymorphism was significantly different（P〈0.05）.The relative risk suffered from cirrhosis of liver resulting from chronic hepatitis B of C allele was 1.507 times of the T allele carriers（OR=1.603,95%CI：1.116-2.064）which were consistent with the results of the genotyping analyses,TGF-β1-509C/T and 869T/C polymorphisms showed strong linkage disequilibrium（｜D＇｜= 0.891）,the-509T/869C haplotype was associated with a significantly increased risk of NPC as compared with the-509C/869T haplotype（OR=1.643,95%CI：1.183-2.320）.CONCLUSIONS TGF-β1 gene-509C/T polymorphism and its haplotype are associated with liver cirrhosis resulting from chronic hepatitis B.T allele is an important genetic susceptible gene.

关 键 词：转化生长因子-Β1 乙型肝炎 肝硬化 单核苷酸多态性 

分 类 号：R512.62[医药卫生—内科学]